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This case report described a 39-year-old male with 47XXY/46XX mosaic Klinefelter syndrome who presented with common features of the condition and male pattern baldness seen in his family.

This case study reports a rare combination of primary hyperparathyroidism with Klinefelter syndrome in a 44-year-old male, highlighting an unusual KS mosaicism with a mild phenotype.

This chapter reviews genetic defects in female sexual differentiation, focusing on 46,XX disorders of sex development and the impact of genetic factors and sex steroids on development, but reports no new clinical findings.

This study found that Turner’s syndrome is associated with significant bone mass decrease due to estrogen deficiency, which can be improved with estrogen therapy, while bone issues in Klinefelter’s syndrome may benefit from early androgen therapy and possibly bisphosphonates.

This study outlines a multidisciplinary approach to investigate primary amenorrhea, emphasizing the necessity to consider medical history, physical examination, and potential hormonal or anatomical causes, and recommends early referral in cases of chromosomal abnormalities or persistent amenorrhea following the development of secondary sexual characteristics.